Table 2.
The association between aortic arch anatomy and a 22q11.2 deletion in cases with a conotruncal cardiac defect
| Primary diagnosis | Aortic Arch anomaly |
No Deletion (%) | Deletion (%) | OR (95% CI) |
|---|---|---|---|---|
| Overall | No | 1,004 (70.6) | 60 (32.1) | |
| Yes | 419 (29.4) | 127 (67.9) | 5.07 (3.66–7.04) | |
| TOF | No | 350 (65.2) | 32 (39.0) | |
| Yes | 187 (34.8) | 50 (61.0) | 2.92 (1.81–4.71) | |
| TA | No | 39 (65.0) | 5 (15.2) | |
| Yes | 21 (35.0) | 28 (84.8) | 10.40 (3.50–30.92) | |
| IAA | No | 30 (62.5) | 16 (35.6) | |
| Yes | 18 (37.5) | 29 (64.4) | 3.02 (1.30–7.03) | |
| VSD | No | 194 (57.7) | 7 (28.0) | |
| Yes | 142 (42.3) | 18 (72.0) | 3.51 (1.43–8.64) | |
| DORV | No | 106 (77.4) | 0 | |
| Yes | 31 (22.6) | 1 (100.0) | N/A | |
| TGA | No | 285 (93.4) | 0 | |
| Yes | 20 (6.6) | 1 (100.0) | N/A |
TOF= Tetralogy of Fallot; TA= Truncus Arteriosus; IAA= Interrupted aortic arch;
VSD= Ventricular septal defect; DORV= Double outlet right ventricle; TGA= Transposition of the great arteries; N/A= not applicable